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PPM-X syndrome
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References
These sources were used to develop the Genetics Home Reference
condition summary
on PPM-X syndrome.
Francke U. Mechanisms of disease: neurogenetics of MeCP2 deficiency. Nat Clin Pract Neurol. 2006 Apr;2(4):212-21. Review.
PubMed citation
Gonzales ML, LaSalle JM. The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep. 2010 Apr;12(2):127-34. doi: 10.1007/s11920-010-0097-7. Review.
PubMed citation
Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H. Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion. Pediatr Res. 2010 May;67(5):551-6. doi: 10.1203/PDR.0b013e3181d4ecf7.
PubMed citation
Villard L. MECP2 mutations in males. J Med Genet. 2007 Jul;44(7):417-23. Epub 2007 Mar 9. Review.
PubMed citation
Reviewed: October 2011
Published: May 13, 2013